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Análisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales

dc.creatorVieira,Alexandre R
dc.creatorCastillo Taucher,Silvia
dc.creatorAravena,Teresa
dc.creatorAstete,Carmen
dc.creatorSanz,Patricia
dc.creatorTastets,María Eugenia
dc.creatorMonasterio,Luis
dc.creatorMurray,Jeffrey C
dc.date2004-07-01
dc.date.accessioned2019-11-14T12:59:22Z
dc.date.available2019-11-14T12:59:22Z
dc.identifierhttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000700005
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/119438
dc.descriptionBackground: Mutations of the MSX1 gene may contribute to nonsyndromic forms of cleft lip and/or cleft palate. Aim: To search for mutations of MSX1 coding regions, including one highly conserved non-coding region in the single intron, among Chilean patients with cleft lip/palate. Patients and Methods: We studied 45 patients with cleft lip/palate and their parents. Oral mucosa samples were obtained with a swab. DNA was extracted and amplified by PCR. Results: Two missense mutations (G16D and G34A) were identified in this study that may be useful for future admixture studies. The G16D mutation appears to disrupt a possible splicing site and may contribute to clefting in this population. Conclusions: Rare MSX1 mutations are found in some cases of cleft lip and/or cleft palate but others remain to be found most likely in other regulatory regions of the gene (Rev Méd Chile 2004; 132: 816-22)
dc.formattext/html
dc.languagees
dc.publisherSociedad Médica de Santiago
dc.relation10.4067/S0034-98872004000700005
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceRevista médica de Chile v.132 n.7 2004
dc.subjectAbnormalities, multiple
dc.subjectCleft lip
dc.subjectGenome library
dc.subjectMSX1 gene
dc.subjectMutation, missense
dc.titleAnálisis mutacional del gen Homeobox de segmento muscular 1 (MSX1) en chilenos con fisuras orales


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